ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.239+3A>G

dbSNP: rs1595695268
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000006349 SCV003443588 likely pathogenic Griscelli syndrome type 2 2022-08-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in skipping of exon 3 (PMID: 10835631). ClinVar contains an entry for this variant (Variation ID: 5983). This variant has been observed in individuals with Griscelli syndrome (PMID: 10835631, 32638196). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the RAB27A gene. It does not directly change the encoded amino acid sequence of the RAB27A protein. It affects a nucleotide within the consensus splice site.
OMIM RCV000006349 SCV000026531 pathogenic Griscelli syndrome type 2 2000-06-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.